Beyond syndromic optic atrophy: expanding the ocular phenotype caused by biallelicvariants in FDXR and reporting retinal dystrophy as a novel feature

被引：0

作者：

Jurkute, Neringa ^{[1
,2
]}

Shanmugarajah, Priya D. ^{[3
]}

Hadjivassiliou, Marios ^{[3
]}

Higgs, Jenny ^{[4
]}

Vojcic, Miodrag ^{[5
]}

Horrocks, Iain ^{[6
]}

Nadjar, Yann ^{[7
]}

Touitou, Valerie ^{[8
]}

Lenaers, Guy ^{[9
]}

Acheson, James ^{[2
,10
]}

Robson, Anthony G. ^{[1
,2
]}

Raymond, F. Lucy ^{[11
,12
]}

Reilly, Mary M. ^{[13
,14
]}

Yu-Wai-Man, Patrick ^{[1
,2
,15
,16
]}

Moore, Anthony T. ^{[1
,2
,17
]}

Webster, Andrew R. ^{[1
,2
]}

Arno, Gavin ^{[1
,2
,18
]}

机构：

[1] UCL, Inst Ophthalmol, London, England

[2] Moorfields Eye Hosp NHS Fdn Trust, London, England

[3] Royal Hallamshire Hosp, Sheffield, S Yorkshire, England

[4] Liverpool Womens Hosp, Liverpool, Merseyside, England

[5] Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England

[6] Royal Hosp Children, Glasgow, Lanark, Scotland

[7] Neurogenet & Metab Unit, Reference Ctr Lysosomal Dis, Paris, France

[8] Grp Hosp La Pitie Salpetriere Charles Foix, DHU Vis & Handicaps, Paris, France

[9] Univ Angers, UMR CNRS 6015, INSERM U1083, MitoLab Team, Angers, France

[10] Univ Coll London Hosp NHS Trust, Natl Hosp Neurol & Neurosurg, London, England

[11] Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England

[12] Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England

[13] Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London, England

[14] UCL Inst Neurol, London, England

[15] Univ Cambridge, John van Geest Ctr Brain Repair, Cambridge, England

[16] Univ Cambridge, MRC Mitochondrial Biol Unit, Dept Clin Neurosci, Cambridge, England

[17] Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA USA

[18] Great Ormond St Hosp Sick Children, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C15.4

引用

页码：60 / 60

页数：1

共 1 条

[1] Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkute, Neringa
Shanmugarajah, Priya D.
Hadjivassiliou, Marios
Higgs, Jenny
Vojcic, Miodrag
Horrocks, Iain
Nadjar, Yann
Touitou, Valerie
Lenaers, Guy
Poh, Roy
Acheson, James
Robson, Anthony G.
Raymond, F. Lucy
Reilly, Mary M.
Yu-Wai-Man, Patrick
Moore, Anthony T.
Webster, Andrew R.
Arno, Gavin
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (06)

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